journal1 ›› 2017, Vol. 25 ›› Issue (2): 214-216.DOI: 10.11852/zgetbjzz2017-25-02-32
Received:2016-03-01
Online:2017-02-10
Published:2017-02-10
罗俊1,邹彩艳1,徐芬1,黎红平1,黄艳1,王辉林2,卢光进1
通讯作者:
王辉林,E-mailwang_huilin@126.com
作者简介:罗俊(1978-),江西人,副主任医师,医学博士,研究方向为新生儿重症监护疾病。
CLC Number:
罗俊,邹彩艳,徐芬,黎红平,黄艳,王辉林,卢光进. 3p21.31微缺失综合征1例报告并文献复习[J]. 中国儿童保健杂志, 2017, 25(2): 214-216.
| [1] Hamilton MJ,Sarkar A,Dixit A,et al.Phenotypes of 8q13.2-q13.3 microdeletion:Case report and literature review of an emerging recurrent microdeletion syndrome[J].Am J Med Genet A,2016,170(3):804-808. [2] Genesio R,Fontana P,Mormile A,et al.Constitutional chromothripsis involving the critical region of 9q21.13 microdeletion syndrome[J].Mol Cytogenet,2015,8(96):1-6. [3] Haldeman-Englert CR,Gai X,Perin JC,et al.A 3.1-Mb microdeletion of 3p21.31 associated with cortical blindness,cleft lip,CNS abnormalities,and developmental delay[J].Eur J Med Genet,2009,52(4):265-268. [4] Eto K,Sakai N,Shimada S,et al.Microdeletions of 3p21.31 characterized by developmental delay,distinctive features,elevated serum creatine kinase levels,and white matter involvement [J].Am J Med Genet A,2013,161A(12):3049-3056. [5] 王慧君,Weimin B,吴冰冰,等.染色体基因芯片分析在临床遗传病诊断中的应用和结果解读[J].中国循证儿科杂志,2014,9(3):227-235. [6] Kodera H,Osaka H,Iai M,et al.Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy[J].J Hum Genet,2015,60(2):97-101. [7] Qiu L,Zhou J.Simultaneous mutations of LAMB2 and NPHP1genes in a Chinese girl with isolated congenital nephrotic syndrome:a case report[J].BMC Pediatr,2016,16:44. [8] Radner S,Banos C,Bachay G,et al.β2 and γ3 laminins are critical cortical basement membrane components:ablation of Lamb2 and Lamc3 genes disrupts cortical lamination and produces dysplasia[J].Dev Neurobiol,2013,73(3):209-229. [9] Zhang X,Ling J,Barcia G,et al.Mutations in QARS,encoding glutaminyl-tRNA synthetase,cause progressive microcephaly,cerebral-cerebellar atrophy,and intractable seizures[J].Am J Hum Genet,2014,94(4):547-558. [10] Salvarinova R,Ye CX,Rossi A,et al.Expansion of the QARS deficiency phenotype with report of a family with isolated supratentorial brain abnormalities[J].Neurogenetics,2015,16(2):145-149. |
| [1] | XIANG Wei. Early prevention of dyslipidemia in children and adolescents as well as cardiovascular health in adulthood [J]. Chinese Journal of Child Health Care, 2023, 31(7): 697-702. |
| [2] | WU Ting, LI Fei. Adverse factors in early life and the development and prevention of chronic diseases [J]. Chinese Journal of Child Health Care, 2023, 31(7): 703-706. |
| [3] | LIU Min, ZHANG Qian, YANG Ting, CHEN Jie, CHEN Li, DAI Ying, JIA Feiyong, WU Lijie, HAO Yan, LI Ling, ZHANG Jie, KE Xiaoyan, YI Mingji, HONG Qi, CHEN Jinjin, FANG Shuanfeng, WANG Yichao, WANG Qi, JIN Chunhua, LI Tingyu. Multi-center survey on serum folic acid in preschool children in China [J]. Chinese Journal of Child Health Care, 2023, 31(7): 713-717. |
| [4] | HUO Yanyan, LIU Zhongling, MA Ling, WU Dan, WANG Xiulian, QIU Xiaoyan, DOU Jiaying, REN Yuqian, LI Yicheng, HONG Xia, CHEN Jinjin. Status quo and risk factors for different body proportions of children under 2 years old in the real world [J]. Chinese Journal of Child Health Care, 2023, 31(7): 718-723. |
| [5] | YANG Yuru, WANG Hong, XU Shuhong, CAO Yanmei, MENG Xian, GE Dongmei. Association between bone development and vitamin K in children aged 0 to 14 years [J]. Chinese Journal of Child Health Care, 2023, 31(7): 746-750. |
| [6] | LI Mingzhu, WANG Jing, XIE Duoshuang. Research progress in the relationship between rapid catch-up growth and childhood obesity in small for gestational age infants [J]. Chinese Journal of Child Health Care, 2023, 31(7): 751-755. |
| [7] | CAO Hui, YAN Shuangqin, GUAN Hongyan. Influence of parent-child interaction on early childhood development outcome [J]. Chinese Journal of Child Health Care, 2023, 31(7): 770-774. |
| [8] | SUN Yan, GUO Fei , CHEN Zhiyan. Chain mediating role of family home reading and mother-child intimacy in intergenerational transmission of emotion regulation strategy [J]. Chinese Journal of Child Health Care, 2023, 31(6): 606-611. |
| [9] | ZHOU Yuanke, LI Yueyue, FANG Bo, SHENG Lulu, WU Wenyi, XI Xuan, LIU Qin. Behavior changes and influencing factors of firstborn children before and after the birth of the second children in a district of Chongqing [J]. Chinese Journal of Child Health Care, 2023, 31(6): 617-622. |
| [10] | TIAN Tian, SONG Jia, LI Jing, YUAN Hui, SHEN Mengmeng, DING Rong, ZHU Xiaohua, XU Hongze, HU Youfang. Family rearing environment and behavior problems of the second child aged 4 to 6 years in Jiangsu Province [J]. Chinese Journal of Child Health Care, 2023, 31(6): 623-628. |
| [11] | WANG Ziyang, HU Lei, LIU Jintong. Associations between family relationship and children's sleep [J]. Chinese Journal of Child Health Care, 2023, 31(6): 640-644. |
| [12] | WANG Dan, HUANG Chuican, FAN Lichun. Research progress in the effects of responsive feeding on sleep of infants and young children [J]. Chinese Journal of Child Health Care, 2023, 31(6): 656-660. |
| [13] | YU Yabin, WANG Jianhong, XU Qi, WANG Lei, ZHOU Bo, ZHANG Lili, WANG Xi, WANG Lin. Influencing factors of children with developmental stuttering [J]. Chinese Journal of Child Health Care, 2023, 31(6): 674-677. |
| [14] | LIANG Yijia, WU Honglin, HE Xiumei, HU Xiaohong, HE Xiyu. Types and frequencies of gene variants in idiopathic short stature children [J]. Chinese Journal of Child Health Care, 2023, 31(6): 678-683. |
| [15] | YING Jiali, CHEN Xiuqin, YANG Chen, HUANG Limei, YU Yan, GAO Xuemei. Moderating role of personality traits in the influence of violent video games on adolescent aggressive behavior [J]. Chinese Journal of Child Health Care, 2023, 31(6): 684-688. |
| Viewed | ||||||
|
Full text |
|
|||||
|
Abstract |
|
|||||
